Cooper Jabs syndrome 720748007
SNOMED CT code
| SNOMED code | 720748007 |
|---|---|
| name | Cooper Jabs syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) |
| synonyms |
|
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Abnormal communication 783804002 |
| Occurrence | Congenital 255399007 |
| Finding site | Interventricular septum structure 589001 |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Congenital atresia 56457002 |
| Finding site | External auditory canal structure 84301002 |
| Occurrence | Congenital 255399007 |
| attributes - group3 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Cooper Jabs syndrome 720748007 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Cooper Jabs syndrome 720748007 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Disorder of cardiovascular system 49601007 Cardiovascular system hereditary disorder 363005004 Cooper Jabs syndrome 720748007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Cooper Jabs syndrome 720748007 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Ear finding 247234006 External ear finding 300083003 Ear canal finding 247247001 Lesion of ear canal 300130009 Congenital atresia of external auditory canal 75355004 Cooper Jabs syndrome 720748007 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Cardiac finding 301095005 Heart disease 56265001 Disorder of cardiac ventricle 415991003 Congenital abnormality of cardiac ventricle 773139006 Congenital ventricular septal defect 768552007 Cooper Jabs syndrome 720748007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Cooper Jabs syndrome 720748007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Cooper Jabs syndrome 720748007 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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